Izifo namanje aziqondi kahle
I-movie ka-1992 ethi " Amafutha Ka-Lorenzo " kwaletha isifo esingavamile esibizwa ngokuthi i-adrenoleukodystrophy (ALD) emhlabeni. Kuyinto eyingozi yokuqhubekayo ye-myelin disorder, okusho ukuthi i-myelin, "ukugxeka" ezungeze izinzwa, ihlehla ngokuhamba kwesikhathi. Ngaphandle kwe-myelin, izinzwa azikwazi ukusebenza ngendlela evamile, noma nhlobo. Ngeshwa, umzimba awukwazi ukukhula ukubuyisela i-myelin, ngakho-ke lesi sifo siphuthuka - siba sibi kakhulu ngokuhamba kwesikhathi.
Yayiyini i-movie "Amafutha ka-Lorenzo"?
Yini eyenza i-ALD, futhi ubani oyiphakamisa?
I-ALD i- disord genetic excessively inherited i - X chromosome . Ngenxa yokuthi i- genetic heritage isebenza kanjani , abafana kuphela abanesimo esibi kakhulu se-ALD. Isifo esivela emzimbeni angeke siphule ama-molecule amakhulu amafutha, noma yiwo umzimba ozenza ngokwawo noma ofaka umzimba ngokudla. Ucwaningo luye lwabonisa ukuthi lokhu kungenzeka ngenxa yeprotheni yenethiwekhi ehluleka ukusebenza kahle futhi ithwale ama-molecule ekhululekile lapho ezodilizwa khona. Ama-molecule enamafutha akha futhi agqoke amangqamuzana, futhi abuhlungu amangqamuzana omzimba ebuchosheni nasendlini yomgogodla . I-ALD ithinta umuntu oyedwa kumadoda angu-20,000.
Isakhi sofuzo esisodwa, esibizwa ngokuthi i-ABCD1, sitholakale sihlotshaniswa ne-ALD. Ukuhlola i-genetic kungenziwa ukuze ubone ukuthi owesifazane unesisindo esingenasici. Ngale ndlela, owesifazane ongase azuze ifa elingavamile uzokwazi ukuthi unalo yini noma unalo (uyithwala) futhi angayidlulisela ezinganeni zakhe.
Ingabe Bonke Abafana Ne-ALD Bafa?
Kunezinhlobo eziningana ukuthi i-ALD ingathatha. Uhlobo olubhubhisa kunazo zonke, yilokho uLorenzo Odone ayenakho, uhlobo lwama-cerebral ebuntwaneni, okusho ukuthi izinzwa ezibuchosheni zibhujiswa. Amaphesenti angama-35 kuya ku-40 azo zonke izimo ze-ALD yiloluhlobo, oluvame ukuvela phakathi kweminyaka engu-4 no-8 ubudala kubafana.
Labafana bavame ukukhubazeka ngokuphelele ezinyangeni ezingu-6 kuya eminyakeni emibili, bese befa esikhathini esithile emva kwalokho.
I-ALD ingabonakala sengathi i- multiple sclerosis , ngoba ukulahlekelwa kancane komzimba emzimbeni kodwa ngaphandle kokulimala kobuchopho buhlobo lobuchopho. Leli fomu lesibili libizwa ngokuthi i-adrenomyeloneuropathy (AMN), limelela ngamaphesenti angaba ngu-40 kuya kwangu-45 kuwo wonke ama-ALD amacala, futhi kuthinta amadoda eminyakeni engu-20 noma yobudala.
Cishe amaphesenti angu-20 abesifazane abathwala isisindo esingafanelekile se-ALD bathuthukise izimpawu zesistimu zezinzwa ezifana ne-adrenomyeloneuropathy, kodwa lokhu kuqala kamuva ekuphileni (iminyaka engama-35 noma kamuva) futhi kubangela isifo esibi kunabesilisa abathintekayo.
Ngenxa yokuthi i-adrenoleukodystrophy inonakalisa izigulane eziyingozi, lesi sifo singaqala njengesifo se- Addison, isifo se-adrenal gland. Lokhu kusho amaphesenti angu-10 azo zonke izimo ze-ALD, futhi kuthinta abesilisa phakathi kweminyaka emibili ubudala nokudala. Amadoda amasha aleli fomu avame futhi athuthukise i-AMN ngeminyaka ephakathi. Abafana abathola ukuthi bane-Addison's disease bavame ukuhlolwa ukuze babone ukuthi i-ALD ingumsuka wenkinga.
Uhlolwe kanjani?
Ukuxilongwa kwe-ALD kusekelwe ezimpawu ezinganeni noma omdala. I- MRI (imaging magnontic resonance) yobuchopho izoba nemiphumela engavamile.
Ngenxa yokuthi amafutha awaphuli kahle, ukuhlola ukuxilongwa kwegazi lohlobo oluthile olubizwa ngokuthi i-long-chain chain acids (VLCFA) lwembula amazinga angavamile ngamaphesenti angu-99 wabesilisa.
Ingabe i-ALD ingelashwa?
Ngeshwa, kusenayo ikhambi eliphelele le-ALD cerebral. Kodwa-ke, kunezindlela eziningana ezivivinywa ezibonakala zinciphisa ukubhujiswa kwalesi sifo. Enye indlela ukusebenzisa " amafutha ka-Lorenzo ," okwenziwe ngamafutha omnqumo nama-rapeseed, nokudla okunamafutha aphansi kakhulu. Amafutha, uma aqala ekuseni kubafana ne-ALD kodwa kungekho zibonakaliso, manje sekuyaziwa ukuthi inenzuzo ethile ekuvikeleni uhlobo lobuchopho lwe-adrenoleukodystrophy ebuntwaneni.
Abacwaningi basalokhu bezama ukuqonda ubuhlobo obuyinkimbinkimbi phakathi kwamafutha emzimbeni, nokuthi amafutha ka-Lorenzo angabuye aguqulwe kanjani ukuze asebenze kangcono.
Ukwelashwa okwesibili kwe-ALD ye-cerebral kuyinto ukufakelwa komnkantsha wamathambo . Umqondo uwukufaka esikhundleni amangqamuzana anesifo se-ALD esingalungile ngamangqamuzana anesifo esijwayelekile se-ALD futhi azophula amafutha.
Ngokuphathelene ne-adrenomyeloneuropathy (AMN), akukho ukwelashwa okwakhiwe. Uma i-adrenal disorder efana ne-Addison's isifo, ukushintshwa kwe-hormone yesikhathi eside inikeza ukwelashwa.
U-Lorenzo Wenzani Kanjani? Ingabe Usaphila?
Ngokudabukisayo, uLornzo wabulawa ne-ALD futhi wafa ngo-Meyi 30, 2008, ngolunye usuku ngemuva kokuzalwa kwakhe kwe-30. Uyaphila nguyise, u-Augusto, umfowabo uFrancesco nodade uCristina. Umama wakhe, uMikhaela (evezwe ku-movie nguSusan Sarandon), wafa ngo-June 10, 2000, umdlavuza wamaphaphu .
Imithombo:
UMoser, uHugh, Ann Moser, uSteven J Steinberg, noGerald V Raymond. "I-X-Linked Adrenoleukodystrophy." GeneReviews. 27 Julayi 2006. I-GeneTests. 6 Feb 2009
"Imininingwane Ngamafutha KaLornzo." I-Myelin Project. 6 Feb 2009